(used for variant description)
(last modified September 8, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_194249.2 in the DND1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering DND1 transcript NM_194249.2.
(upstream sequence)
. . . . g.5044
ggaggaagttataaagagggtacgagggggccagctggagagcc c.-1
. . | 02 . . . . g.5234
ATGCAGTCCAAGCGGGATTGTGAG | CTGTGGTGTGAGAGGGTGAATCCAGAGAACAAGGCG c.60
M Q S K R D C E | L W C E R V N P E N K A p.20
. . . . . . g.5294
GCGCTGGAGGCGTGGGTCAGGGAGACAGGCATCCGCCTGGTGCAGGTGAACGGGCAGAGG c.120
A L E A W V R E T G I R L V Q V N G Q R p.40
. . | 03 . . . . g.5718
AAGTATGGCGGGCCACCCCCAG | GCTGGGTGGGCAGCCCGCCGCCAGCTGGGTCAGAGGTG c.180
K Y G G P P P G | W V G S P P P A G S E V p.60
. . . . . . g.5778
TTCATCGGGCGGCTGCCTCAGGACGTGTACGAGCACCAGCTTATCCCGCTGTTCCAGCGC c.240
F I G R L P Q D V Y E H Q L I P L F Q R p.80
. . . . . . g.5838
GTGGGCCGCCTCTACGAGTTCCGCCTGATGATGACCTTCAGCGGCCTGAACCGCGGCTTC c.300
V G R L Y E F R L M M T F S G L N R G F p.100
. . . . . . g.5898
GCCTATGCCCGCTACAGCTCGAGGCGCGGCGCGCAGGCCGCCATCGCCACGCTGCACAAC c.360
A Y A R Y S S R R G A Q A A I A T L H N p.120
. . . . . . g.5958
CATCCGCTGCGGCCGTCCTGCCCGCTGCTCGTGTGCCGCAGCACCGAGAAGTGTGAGCTG c.420
H P L R P S C P L L V C R S T E K C E L p.140
. . . . . . g.6018
AGCGTTGACGGCCTGCCGCCGAATCTGACCCGCAGCGCGCTGCTGCTCGCGCTGCAGCCG c.480
S V D G L P P N L T R S A L L L A L Q P p.160
. . . . . . g.6078
CTGGGTCCCGGCTTGCAGGAGGCGCGGCTGCTGCCCAGCCCCGGACCGGCGCCCGGGCAG c.540
L G P G L Q E A R L L P S P G P A P G Q p.180
. . . . . . g.6138
ATCGCTCTGCTCAAATTCAGCTCGCACCGGGCCGCTGCCATGGCCAAAAAGGCCCTGGTG c.600
I A L L K F S S H R A A A M A K K A L V p.200
| 04 . . . . . . g.6892
GAAG | GGCAGTCACACCTCTGTGGAGAGCAGGTGGCTGTGGAGTGGCTCAAGCCAGACCTG c.660
E G | Q S H L C G E Q V A V E W L K P D L p.220
. . . . . . g.6952
AAGCAGCGACTTCGCCAGCAGCTTGTGGGTCCCTTCTTGCGGTCCCCACAGCCAGAGGGC c.720
K Q R L R Q Q L V G P F L R S P Q P E G p.240
. . . . . . g.7012
AGCCAGTTGGCTTTGGCAAGGGACAAGTTAGGGTTCCAAGGGGCTCGGGCTACCCTGCAG c.780
S Q L A L A R D K L G F Q G A R A T L Q p.260
. . . . . . g.7072
TTGCTGTGCCAACGAATGAAGCTGGGCAGCCCTGTGTTCCTCACCAAGTGTTTGGGCATA c.840
L L C Q R M K L G S P V F L T K C L G I p.280
. . . . . . g.7132
GGACCTGCTGGCTGGCACCGCTTCTGGTACCAGGTGGTGATTCCTGGGCATCCGGTGCCC c.900
G P A G W H R F W Y Q V V I P G H P V P p.300
. . . . . . g.7192
TTCAGCGGCCTCATCTGGGTTGTGCTGACCCTAGATGGCCGGGATGGGCATGAGGTGGCC c.960
F S G L I W V V L T L D G R D G H E V A p.320
. . . . . . g.7252
AAGGATGCTGTGTCTGTACGGCTGCTGCAGGCACTCAGTGAGTCTGGGGCCAACCTCCTG c.1020
K D A V S V R L L Q A L S E S G A N L L p.340
. . . . g.7294
TGGTCTGCTGGGGCTGAGGCAGGTACCATGGTTAAACAGTGA c.1062
W S A G A E A G T M V K Q X p.353
. . . . . . g.7354
ctccattctttctccacaggcaccctgaatgggcatgcagagcctgtgtcaggccccatc c.*60
. . . . . . g.7414
ccagcaggcctgggtggccactttctgacccccaaaggtggggaggggcatgggcccagg c.*120
. . . . . . g.7474
cccatcagcctccctgctgggacagggacctatggcacctgggggcagcttaggtttggg c.*180
. . . . . . g.7534
ttaagttgtggtgaggggccttgccctcccgctcccagcccagggtccaacctgacccag c.*240
. . . . . . g.7594
tgatcttccatggccgttccttgtcccacccccacccgatcataccttcccccctctgcc c.*300
. . . . . . g.7654
acagcttagcatgaatcttctttattgtcctgatttgtcctctttgttggtttttatttg c.*360
. . . . . . g.7714
tggggaagggcagctgagccaaaggggtcagaaattctgccctttgcctccaccacatgg c.*420
. . . . . . g.7774
cattctggttttggtttctgtatagttttgggtctttctatgctggttgtatttatatta c.*480
. g.7791
aacccctggttagtata c.*497
(downstream sequence)
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